Identification of DPAGT1 as a new gene in which mutations cause a congenital myasthenic syndrome.
Congenital myasthenic syndromes (CMS) are a group of inherited disorders that arise from impaired signal transmission at the neuromuscular synapse. They are characterized by fatigable muscle weakness. This is a heterogenous group of disorders with 15 different genes implicated in the development of...
| Autori principali: | , , , , , , |
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| Natura: | Journal article |
| Lingua: | English |
| Pubblicazione: |
2012
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